Y73C (p.Tyr73Cys) variant of MMUT (P22033)
Y73C (p.Tyr73Cys) in MMUT (P22033) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data and structural context.
Y73C (p.Tyr73Cys) variant details
- p.Tyr73Cys
- TOPMed rs1320622655
- gnomAD rs1320622655
- Missense
- Variant Prioritization Score for Impact Estimate 0.839
- REVEL 0.99
- CADD 25.60
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available